DISEASES

Disease-gene associations mined from literature

Human genes for multiple mitochondrial dysfunctions syndrome 1

Multiple mitochondrial dysfunctions syndrome 1 [DOID:0080133]

A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.

Synonyms:  multiple mitochondrial dysfunctions syndrome 1,  DOID:0080133,  NFU1 deficiency